If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
15
|
6
|
93
|
87
|
17
|
205
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
1
|
1
|
45
|
82
|
8
|
137
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
4
|
13
|
63
|
OMIM
|
12
|
0 |
1
|
0 |
0 |
13
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
0 |
1
|
0 |
1
|
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
0 |
1
|
Centre de recherche CHU de Quebec-Universite Laval, Laval University
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
1
|
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